| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908619_44908651dup | CA633478354 | APOE | c.323_355dup (p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaAla) c.401_433dup (p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908645G>A | CA042275 | APOE | c.349G>A (p.Ala117Thr) c.427G>A (p.Ala143Thr) | dbSNP |
| 19 | g.[44908645G>A;44908804G>C] | CA042565 | APOE | c.[349G>A;508G>C] (p.[Ala117Thr;Ala170Pro]) c.[427G>A;586G>C] (p.[Ala143Thr;Ala196Pro]) | ClinVar |
| 19 | g.44908645G>C | CA406303851 | APOE | c.349G>C (p.Ala117Pro) c.427G>C (p.Ala143Pro) | |
| 19 | g.44908645G= | CA2338167460 | APOE | c.349G= (p.Ala117=) c.427G= (p.Ala143=) | |
| 19 | g.44908645G>T | CA406303852 | APOE | c.349G>T (p.Ala117Ser) c.427G>T (p.Ala143Ser) | |
| 19 | g.44908646C>A | CA406303853 | APOE | c.350C>A (p.Ala117Glu) c.428C>A (p.Ala143Glu) | dbSNP gnomAD v2 |
| 19 | g.44908646C= | CA2338167465 | APOE | c.350C= (p.Ala117=) c.428C= (p.Ala143=) | |
| 19 | g.44908646C>G | CA406303854 | APOE | c.350C>G (p.Ala117Gly) c.428C>G (p.Ala143Gly) | |
| 19 | g.44908646C>T | CA9506046 | APOE | c.350C>T (p.Ala117Val) c.428C>T (p.Ala143Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908647G>A | CA507947465 | APOE | c.351G>A (p.Ala117=) c.429G>A (p.Ala143=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908647G>C | CA507947466 | APOE | c.351G>C (p.Ala117=) c.429G>C (p.Ala143=) | |
| 19 | g.44908647G>T | CA507947468 | APOE | c.351G>T (p.Ala117=) c.429G>T (p.Ala143=) | gnomAD v4 |
| 19 | g.44908648G>A | CA406303855 | APOE | c.352G>A (p.Ala118Thr) c.430G>A (p.Ala144Thr) | gnomAD v4 |
| 19 | g.44908648G>C | CA406303856 | APOE | c.352G>C (p.Ala118Pro) c.430G>C (p.Ala144Pro) | |
| 19 | g.44908648G>T | CA406303857 | APOE | c.352G>T (p.Ala118Ser) c.430G>T (p.Ala144Ser) | |
| 19 | g.44908649C>A | CA406303858 | APOE | c.353C>A (p.Ala118Glu) c.431C>A (p.Ala144Glu) | |
| 19 | g.44908649C= | CA2338167469 | APOE | c.353C= (p.Ala118=) c.431C= (p.Ala144=) | |
| 19 | g.44908649C>G | CA406303859 | APOE | c.353C>G (p.Ala118Gly) c.431C>G (p.Ala144Gly) | dbSNP |
| 19 | g.44908649C>T | CA308885365 | APOE | c.353C>T (p.Ala118Val) c.431C>T (p.Ala144Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908650G>A | CA507947470 | APOE | c.354G>A (p.Ala118=) c.432G>A (p.Ala144=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908650G>C | CA507947471 | APOE | c.354G>C (p.Ala118=) c.432G>C (p.Ala144=) | |
| 19 | g.44908650G= | CA2338167471 | APOE | c.354G= (p.Ala118=) c.432G= (p.Ala144=) | |
| 19 | g.44908650G>T | CA9506047 | APOE | c.354G>T (p.Ala118=) c.432G>T (p.Ala144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908651C>A | CA406303861 | APOE | c.355C>A (p.Gln119Lys) c.433C>A (p.Gln145Lys) | |
| 19 | g.44908651C>G | CA406303860 | APOE | c.355C>G (p.Gln119Glu) c.433C>G (p.Gln145Glu) | |
| 19 | g.44908651C>T | CA406303862 | APOE | c.355C>T (p.Gln119Ter) c.433C>T (p.Gln145Ter) | |
| 19 | g.44908652A= | CA2338167472 | APOE | c.356A= (p.Gln119=) c.434A= (p.Gln145=) | |
| 19 | g.44908652A>C | CA9506048 | APOE | c.356A>C (p.Gln119Pro) c.434A>C (p.Gln145Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908652A>G | CA406303864 | APOE | c.356A>G (p.Gln119Arg) c.434A>G (p.Gln145Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908652A>T | CA406303863 | APOE | c.356A>T (p.Gln119Leu) c.434A>T (p.Gln145Leu) | |
| 19 | g.44908653G>A | CA507947475 | APOE | c.357G>A (p.Gln119=) c.435G>A (p.Gln145=) | |
| 19 | g.44908653G>C | CA406303865 | APOE | c.357G>C (p.Gln119His) c.435G>C (p.Gln145His) | |
| 19 | g.44908653G>T | CA406303866 | APOE | c.357G>T (p.Gln119His) c.435G>T (p.Gln145His) | |
| 19 | g.44908654G>A | CA406303867 | APOE | c.358G>A (p.Ala120Thr) c.436G>A (p.Ala146Thr) | gnomAD v4 |
| 19 | g.44908654G>C | CA406303869 | APOE | c.358G>C (p.Ala120Pro) c.436G>C (p.Ala146Pro) | |
| 19 | g.44908654G= | CA2338167473 | APOE | c.358G= (p.Ala120=) c.436G= (p.Ala146=) | |
| 19 | g.44908654G>T | CA406303868 | APOE | c.358G>T (p.Ala120Ser) c.436G>T (p.Ala146Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908655C>A | CA406303870 | APOE | c.359C>A (p.Ala120Asp) c.437C>A (p.Ala146Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908655C= | CA2338167474 | APOE | c.359C= (p.Ala120=) c.437C= (p.Ala146=) | |
| 19 | g.44908655C>G | CA406303872 | APOE | c.359C>G (p.Ala120Gly) c.437C>G (p.Ala146Gly) | |
| 19 | g.44908655C>T | CA406303871 | APOE | c.359C>T (p.Ala120Val) c.437C>T (p.Ala146Val) | |
| 19 | g.44908656_44908671del | CA2585715437 | APOE | c.360_375del (p.Arg121TrpfsTer?) c.438_453del (p.Arg147TrpfsTer?) | gnomAD v4 |
| 19 | g.44908656C>A | CA507947478 | APOE | c.360C>A (p.Ala120=) c.438C>A (p.Ala146=) | dbSNP |
| 19 | g.44908656C= | CA2338167476 | APOE | c.360C= (p.Ala120=) c.438C= (p.Ala146=) | |
| 19 | g.44908656C>G | CA507947479 | APOE | c.360C>G (p.Ala120=) c.438C>G (p.Ala146=) | |
| 19 | g.44908656C>T | CA507947481 | APOE | c.360C>T (p.Ala120=) c.438C>T (p.Ala146=) | |
| 19 | g.44908657C>A | CA308885370 | APOE | c.361C>A (p.Arg121=) c.439C>A (p.Arg147=) | dbSNP gnomAD v4 |
| 19 | g.44908657C= | CA2338167478 | APOE | c.361C= (p.Arg121=) c.439C= (p.Arg147=) | |
| 19 | g.44908657C>G | CA406303873 | APOE | c.361C>G (p.Arg121Gly) c.439C>G (p.Arg147Gly) | dbSNP |